Clinical Trials

22q11.2 deletion syndrome is a genetic disorder that can cause heart defects, facial abnormalities, and developmental and learning disabilities. The severity of the disorder can vary widely among people. This study will analyze DNA from people with 22q11.2 deletion syndrome to identify genetic variations that may affect the severity of the disorder.

Does your child have Down Syndrome? Did they have a complete atrioventricular septal defect (CAVSD) repair within the first year of their life? Researchers in this study are investigating how the
brain develops in children with Down Syndrome who have congenital heart disease. To participate, your child must be between 5 and 12 years old and have Down Syndrome. The study will enroll children who have congenital heart disease as well as children who do not have congenital heart disease. The study is taking place in locations in Delaware, Georgia, Indiana, Massachusetts, Michigan, Missouri, New York, Ohio, Pennsylvania, South Carolina, Texas, Utah, Washington, D.C., and Toronto, Canada

Do you or one of your children have a congenital heart defect? This study will find both common genetic causes of congenital heart disease and ways that genes influence results of medical treatment. To participate in this study, you or your child must have congenital heart disease. This study is located in Los Angeles, Palo Alto, and San Francisco, California; New Haven, Connecticut; Boston, Massachusetts; New York and Rochester, New York; Philadelphia, Pennsylvania; and Salt Lake City, Utah.

Are you a greater Boston resident aged 24 to 30? This study aims to bridge the gap in knowledge between known executive function deficits in childhood congenital heart disease and adult well-being. The study is Recruitinghealthy volunteers. To participate in this study, you must be between the ages of 24 and 30, live in the greater Boston area, read fluently in English, and not have metal implants, a pacemaker, or orthodontia that would prevent MRI. This study is located in Boston, Massachusetts.

Are you an adult female with LAM? If so, you may be able to participate in this clinical study where researchers are observing patients who are taking or have taken a certain kind of medication, mammalian target of rapamycin (mTOR), to treat lymphangioleiomyomatosis, also known as LAM. You must be at least 18 years old to take part. The study is taking place at locations in California, Colorado, Florida, Georgia, Illinois, Massachusetts, Michigan, Minnesota, Missouri, New York, Ohio, Oregon, Pennsylvania, South Carolina, Tennessee, Texas, Utah, and Washington.

Do you or your child have a platelet, bleeding, or white blood cell disorder? This study is looking at people who have platelet or other blood disorders. The researchers will use a blood sample to look for problems with platelets and a possible genetic cause in the participant’s DNA or RNA. To participate in this study, you must be a child or adult who either is healthy or has a platelet disorder, coagulation disorder, or white blood cell disorder. This study is located in New York, New York.

Does your infant have a low platelet count? This study is investigating the safety and efficacy of platelet transfusion as a treatment for infants with thrombocytopenia. Researchers are looking at the positive effects of platelet transfusion against the negative effects, such as the release of inflammatory molecules and the formation of blood clots. To participate in this study, your child must be younger than 6 months old and have a low platelet count (less than 100 × 109/L). This study takes place in Boston, Massachusetts.

Does your infant have a low platelet count? This study investigates immature platelet counts as a marker for bleeding risk in newborns with thrombocytopenia, compared with platelet counts alone. Immature platelets are the most recently produced platelets and may be a better marker of platelet production. To participate in this study, you must have a newborn who is less than 32 weeks’ gestational age, has a birth weight greater than 500 grams, and has a platelet count less than 100 × 109/L. This study takes place in multiple locations in the United States, the Netherlands, and Sweden.

his trial will evaluate an oral drug discovered in a high throughput screen, which increases fetal globin protein (HbF and red blood cells expressing HbF)and messenger ribonucleic acid (mRNA) to high levels in anemic nonhuman primates and in transgenic mice.

Sickle Cell Disease (SCD) impairs oxygen transport to tissue and causes endothelial injury. Thus, therapeutic interventions aim to improve both, but there is an unmet need for biomarkers to determine when intervention is necessary and evaluate the effectiveness of the chosen intervention in individual patients. This study proposes to monitor SCD and its treatment through their impact on cerebral hemodynamics, as the brain is one of the most vulnerable and consequential targets of the disease. Specifically, this study will optimize quantitative magnetic resonance imaging (MRI) and advanced optical spectroscopy techniques such as frequency-domain near-infrared and diffuse correlation spectroscopies (FDNIRS-DCS) to monitor 1) cerebral oxygen transport with measures of cerebral blood flow (CBF), cerebral oxygen extraction fraction (OEF) and cerebral metabolic rate of oxygen consumption (CMRO2) and 2) endothelial function with cerebrovascular reactivity (CVR).